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Found 107 clinical trials
Evaluation of the Effects of KCNQ1 Mutation on Insulin Tolerance and Obsessive Compulsive Features in Long QT Romano-Ward Syndrome Patients.

The objectives of the study are to investigate if KCNQ1 mutation in Romano-Ward long QT patients can be associated with changes in insulin regulation and with psychological features of compulsivity, impulsivity and behavioural rigidity.

  • 0 views
  • 01 Feb, 2021
  • 1 location
MEK 1/2 Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) in Adults With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas

Background Neurofibromatosis type 1 (NF1) is a disorder that can cause plexiform neurofibromas (PNs). These are tumors that grow along nerves. Some PNs cause serious health problems. PNs often can t be operated on because of their large size, location, or number. There are no effective treatments known for people …

anticoagulant
gilbert disease
nerve compression
MRI Scan
nf1 mutation
  • 252 views
  • 25 Jan, 2021
  • 1 location
Intermittent Dosing Of Selumetinib In Childhood NF1 Associated Tumours

Phase I and II study of the MEK inhibitor Selumetinib given twice daily on 5 out of 7 days in children with NF1 and inoperable plexiform neurofibromas or progressive/relapsed optic pathway gliomas. This study will test the early and late toxicities of selumetinib when it is given in this intermittent …

  • 48 views
  • 26 Jan, 2021
  • 2 locations
Post-Marketing Surveillance Study of Tolvaptan in Patients With ADPKD

The purpose of this study is to evaluate the safety and effectiveness of tolvaptan in patients with autosomal dominant polycystic kidney disease (ADPKD) in the real world clinical setting in

tolvaptan
renal disease
  • 0 views
  • 06 Mar, 2021
  • 1 location
Development and Assessment of The Polycystic Liver Disease Questionnaire (PLD-Q).

by the formation of numerous cysts in the liver, and can lead to severe symptomatic hepatomegaly. It is common in patients with autosomal dominant polycystic liver disease (ADPLD) and autosomal

  • 16 views
  • 26 Jan, 2021
  • 1 location
CADASIL Registry Study

The aim of this study is to determine the clinical spectrum and natural progression of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) and

  • 0 views
  • 23 Jan, 2021
  • 1 location
Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)

CMD can be inherited in an autosomal dominant or recessive trait. CMD may also be caused by de novo mutations. The goal of this study is to identify genes and regulatory elements on chromosomes

  • 0 views
  • 27 Jan, 2021
  • 1 location
ADPKD Patient Registry

The purpose of the ADPKD Registry is to create an online patient network that includes at least 5,000 people with Autosomal Dominant Polycystic Kidney Disease (ADPKD) who contribute data on

  • 0 views
  • 26 Jan, 2021
  • 1 location
LIPAD - LRRK2 International Parkinson's Disease Study

Parkinson's syndrome is clinically indistinguishable from idiopathic Parkinson's disease. It is inherited autosomal dominant, that means if one of the two gene copies is altered, the disease occurs. However

  • 0 views
  • 23 Jan, 2021
  • 1 location
Hirschsprung Disease Genetic Study

Hirschsprung disease is a genetic condition caused by lack of nerve cells in varying lengths of the intestines. This study will investigate the complex genetic basis of the disease, which involves multiple interacting genetic factors.

  • 89 views
  • 25 Jan, 2021
  • 1 location